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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: imai k. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
[Acute limbic encephalitis and NMDA type-glutamate receptor].
Takahashi Y, Yamazaki E, Nishimura S, Tsunogae H, Niwa K, Dalmau J, Imai K, Fujiwara T. Takahashi Y, et al. Among authors: imai k. Rinsho Shinkeigaku. 2008 Nov;48(11):926-9. doi: 10.5692/clinicalneurol.48.926. Rinsho Shinkeigaku. 2008. PMID: 19198120 Japanese.
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Among authors: imai k. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.
Lamotrigine is favourable for startle-induced seizures.
Ikeda H, Imai K, Ikeda H, Shigematsu H, Shishido T, Takayama R, Fujiwara T, Takahashi Y, Inoue Y. Ikeda H, et al. Among authors: imai k. Epileptic Disord. 2011 Sep;13(3):277-83. doi: 10.1684/epd.2011.0458. Epileptic Disord. 2011. PMID: 21896426 Free article.
5,065 results